Corneal Dystrophy
Gene: KRT12
KRT12 (keratin 12)
EnsemblGeneIds (GRCh38): ENSG00000187242
EnsemblGeneIds (GRCh37): ENSG00000187242
OMIM: 601687, Gene2Phenotype
KRT12 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000187242
EnsemblGeneIds (GRCh37): ENSG00000187242
OMIM: 601687, Gene2Phenotype
KRT12 is in 2 panels
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Meesmann corneal dystrophy 1, MIM# 122100
- OMIM
- 601687
- Clinvar variants
- Variants in KRT12
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
27 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: krt12 has been classified as Green List (High Evidence).
27 Jul 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KRT12 were changed from to Meesmann corneal dystrophy 1, MIM# 122100
27 Jul 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: KRT12 were set to
27 Jul 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: KRT12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KRT12 was added gene: KRT12 was added to Corneal Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KRT12 was set to Unknown